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Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms
This report discusses a 13-year-old girl diagnosed with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is an X-linked neurodegeneration disorder associated with a mutation in the WDR45 gene. It typically presents in childhood with encephalopathy, developmental delay, and seizures....
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| Publicado no: | Cureus |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cureus
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6795347/ https://ncbi.nlm.nih.gov/pubmed/31632858 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.5404 |
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